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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03923: Variant p.Leu60Ser

NADH-ubiquinone oxidoreductase chain 6
Gene: MT-ND6
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Variant information Variant position: help 60 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Serine (S) at position 60 (L60S, p.Leu60Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (L) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In LHON. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 60 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 174 The length of the canonical sequence.
Location on the sequence: help CVIILNFGGGYMGLMVFLIY L GGMMVVFGYTTAMAIEEYPE The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         CVIILNFGGGY-MGLMVFLIYLGGMMVVFGYTTAMAIEEYPE-----

Gorilla                       CAIILNCGGGY-MGLMVFLIYLGGMMVVFGYTTAMAIGEYP

                              CAIVLNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEQYP

Chimpanzee                    CAIILNYGGGY-MGLMVFLIYLGGMMVVFGYTTAMAIEEYP

Mouse                         CLMVLGFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEEYP

Rat                           CLMVLGFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEEYP

Pig                           CGIVLNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEMYP

Bovine                        CGIVLNFGGSF-LGLMVFLIYLGGMMVVFGYTTAMATEQYP

Rabbit                        CGIVLSFGGSF-LGLMMFLIYLGGMLVVFGYTTAMATEEYP

Sheep                         CGIVLNFGGSF-LGLMVFLIYLGGMMVVFGYTTAMATEQYP

Cat                           CGIVLNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEPYP

Horse                         CGIIMNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEQYP

Chicken                       CGWLVSLGVSF-VSLALFLVYLGGMLVVFVYSVSLAADPYP

Xenopus laevis                CLVIVSFGSSF-LSIVLFLIYLGGMLVVFAYSAARA-KPYP

Zebrafish                     CGILVSYGGSF-LSLILFLIYLGGMLVVFAYSAALAAEPFP

Caenorhabditis elegans        -MPVISMSMHIWFSYFICLLFLSGIFVILVYFSSL------

Drosophila                    CLLTGLMTKSFWYSYILFLIFLGGMLVLFIYVTSLASNEMF

Slime mold                    ASILLTVEMEF-LACIYILVNVGAIAVLFLFIVMMININIV
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 1 – 174 NADH-ubiquinone oxidoreductase chain 6
Transmembrane 47 – 67 Helical



Literature citations
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
Chinnery P.F.; Brown D.T.; Andrews R.M.; Singh-Kler R.; Riordan-Eva P.; Lindley J.; Applegarth D.A.; Turnbull D.M.; Howell N.;
Brain 124:209-218(2001)
Cited for: VARIANT LHON SER-60; VARIANTS ALA-31 AND VAL-33;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.